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Article

Mutational mapping of sequence variants within the arginine- and serine-rich domain of RNA binding motif protein 20.

Biochemical and biophysical research communications - 10 Sept 2026

Groß Joline, Wiebe Caroline, Felski Elina, Landwehr Sandra, Brodehl Andreas, Ebbinghaus Hans, Rezaei Masoomeh, Özger Meryem, Blöbaum Julia, Staiger Dorothee, Gummert Jan, Hoyer Annika, Schubert Stephan, Milting Hendrik, Gärtner Anna

Abstract excerpt

Mutations in the cardiac splicing factor RNA binding motif protein 20 (RBM20) are associated with severe forms of dilated cardiomyopathy. Mutations predominate within the highly conserved RSRSP-stretch and are characterized by a cytoplasmic mislocalization of RBM20. However, a sequence downstream of the RSRSP-stretch, the SRSLSP-stretch, is also phylogenetically highly conserved. The impact of the SRSLSP-stretch...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42462460
DOI: 10.1016/j.bbrc.2026.154294

Genes

RBM20
TNPO3
TTN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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